DKC1

dyskerin pseudouridine synthase 1

Details

HGNC: HGNC:2890
GeneCards: DKC1
NCBI: 1736
Ensembl: ENSG00000130826
UniProt: O60832
OMIM: 300126
UCSC: uc004fmm.5
VEGA: OTTHUMG00000024242
ENA: AJ224481
Alias Symbols: XAP101, dyskerin, NAP57, NOLA4, Cbf5
Previous Symbols: DKC
Alias Names: "H/ACA ribonucleoprotein complex subunit 4"
Previous Names: "dyskeratosis congenita 1, dyskerin"

Associated Studies

Multifaceted evolution focused on maximal exploitation of domain knowledge for the consensus inference of Gene Regulatory Networks

2025 | Segura-Ortiz, Adrián; Giménez-Orenga, Karen; García-Nieto, José; Oltra, Elisa; Aldana-Montes, José F.

Associated cohorts

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)

Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria, ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)

Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria

HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity

2025 | Giménez-Orenga, Karen; Martín-Martínez, Eva; Nathanson, Lubov; Oltra, Elisa

Associated cohorts

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)

Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria

Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome

2024 | Iu, David S.; Maya, Jessica; Vu, Luyen T.; Fogarty, Elizabeth A.; McNairn, Adrian J.; Ahmed, Faraz; Franconi, Carl J.; Munn, Paul R.; Grenier, Jennifer K.; Hanson, Maureen R.; Grimson, Andrew

Associated cohorts

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - IOM (Institute of Medicine) 2015 criteria, Post-exertional malaise (PEM)